Variant report

Variant	rs757717
Chromosome Location	chr7:100787949-100787950
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100787473..100788008-chr7:100835530..100836418,2	MCF-7	breast:
2	chr7:100787940..100790532-chr7:100796855..100798995,2	K562	blood:
3	chr7:100786511..100795438-chr7:100806957..100810665,11	MCF-7	breast:
4	chr7:100787431..100787973-chr7:100887217..100888090,3	MCF-7	breast:
5	chr7:100787327..100788961-chr7:100808020..100809749,2	MCF-7	breast:
6	chr7:100779234..100783955-chr7:100785542..100789331,5	K562	blood:
7	chr7:100785925..100789064-chr7:100796223..100798881,3	MCF-7	breast:
8	chr7:100782455..100785842-chr7:100786021..100789331,3	K562	blood:
9	chr7:100787393..100788108-chr7:100835474..100836408,5	MCF-7	breast:
10	chr7:100783993..100788861-chr7:100804489..100807754,6	MCF-7	breast:
11	chr7:100787020..100787970-chr7:100835482..100836414,8	K562	blood:
12	chr7:100787012..100787971-chr7:100812746..100813722,4	K562	blood:
13	chr7:100787107..100787997-chr7:100926016..100926843,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106367	Chromatin interaction
ENSG00000128564	Chromatin interaction
ENSG00000214253	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2005742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2227657	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2227660	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2227663	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2227694	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2227704	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7459187	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7788294	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
5	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
6	nsv464649	chr7:100739682-100810983	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv607972	chr7:100739682-100810983	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
9	nsv1018841	chr7:100760410-100868299	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
10	nsv534186	chr7:100773842-100898909	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
11	nsv607973	chr7:100782460-100873835	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100772000-100797400	Weak transcription	Right Atrium	heart
2	chr7:100783200-100788600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:100784000-100788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:100784600-100788600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:100787000-100788000	Enhancers	Fetal Intestine Small	intestine
6	chr7:100787000-100788000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr7:100787000-100788600	Enhancers	Duodenum Mucosa	Duodenum
8	chr7:100787200-100788000	Bivalent Enhancer	Fetal Stomach	stomach
9	chr7:100787200-100788000	Enhancers	Rectal Smooth Muscle	rectum
10	chr7:100787200-100788000	Enhancers	HepG2	liver
11	chr7:100787200-100788200	Enhancers	Liver	Liver
12	chr7:100787400-100788000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:100787400-100788000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr7:100787400-100788400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:100787400-100788600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:100787400-100789000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:100787800-100788000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:100787800-100788000	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr7:100787800-100788000	Enhancers	Small Intestine	intestine
20	chr7:100787800-100797200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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